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Aliases for PHIP Gene

Aliases for PHIP Gene

  • Pleckstrin Homology Domain Interacting Protein 2 3 5
  • DDB1 And CUL4 Associated Factor 14 2 3
  • IRS-1 PH Domain-Binding Protein 3 4
  • WD Repeat-Containing Protein 11 3 4
  • WDR11 3 4
  • DCAF14 3
  • BRWD2 3
  • Ndrp 3

External Ids for PHIP Gene

Previous HGNC Symbols for PHIP Gene

  • WDR11

Previous GeneCards Identifiers for PHIP Gene

  • GC06M079593
  • GC06M079645
  • GC06M079707
  • GC06M079644
  • GC06M076837

Summaries for PHIP Gene

Entrez Gene Summary for PHIP Gene

  • PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM, Jun 2009]

GeneCards Summary for PHIP Gene

PHIP (Pleckstrin Homology Domain Interacting Protein) is a Protein Coding gene. Diseases associated with PHIP include phimosis and penile disease. GO annotations related to this gene include insulin receptor binding and lysine-acetylated histone binding. An important paralog of this gene is BRWD3.

UniProtKB/Swiss-Prot for PHIP Gene

  • Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHIP Gene

Genomics for PHIP Gene

Regulatory Elements for PHIP Gene

Promoters for PHIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHIP on UCSC Golden Path with GeneCards custom track

Genomic Location for PHIP Gene

Chromosome:
6
Start:
78,934,419 bp from pter
End:
79,078,294 bp from pter
Size:
143,876 bases
Orientation:
Minus strand

Genomic View for PHIP Gene

Genes around PHIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHIP Gene

Proteins for PHIP Gene

  • Protein details for PHIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWQ0-PHIP_HUMAN
    Recommended name:
    PH-interacting protein
    Protein Accession:
    Q8WWQ0
    Secondary Accessions:
    • A7J992
    • B2RPK4
    • Q05CQ9
    • Q5VVH4
    • Q66I29
    • Q69YV1
    • Q8NBZ5
    • Q96H52
    • Q96ME2
    • Q9H261

    Protein attributes for PHIP Gene

    Size:
    1821 amino acids
    Molecular mass:
    206689 Da
    Quaternary structure:
    • Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro).
    SequenceCaution:
    • Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC11417.1; Type=Frameshift; Positions=1648; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PHIP Gene

neXtProt entry for PHIP Gene

Proteomics data for PHIP Gene at MOPED

Post-translational modifications for PHIP Gene

  • Ubiquitination at Lys 65, Lys 400, Lys 1005, Lys 1032, Lys 1150, Lys 1393, Lys 1528, Lys 1542, and Lys 1736
  • Modification sites at PhosphoSitePlus

Other Protein References for PHIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHIP Gene

Domains & Families for PHIP Gene

Suggested Antigen Peptide Sequences for PHIP Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWQ0

UniProtKB/Swiss-Prot:

PHIP_HUMAN :
  • Contains 2 bromo domains.
  • Contains 8 WD repeats.
Domain:
  • Contains 2 bromo domains.
Similarity:
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with PHIP: view

Function for PHIP Gene

Molecular function for PHIP Gene

UniProtKB/Swiss-Prot Function:
Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

Gene Ontology (GO) - Molecular Function for PHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 11018022
genes like me logo Genes that share ontologies with PHIP: view
genes like me logo Genes that share phenotypes with PHIP: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHIP Gene

Localization for PHIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHIP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHIP Gene COMPARTMENTS Subcellular localization image for PHIP gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for PHIP Gene

Pathways & Interactions for PHIP Gene

SuperPathways for PHIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008284 positive regulation of cell proliferation ISS --
GO:0008286 insulin receptor signaling pathway NAS 11018022
GO:0008360 regulation of cell shape IBA --
GO:0045840 positive regulation of mitotic nuclear division ISS --
genes like me logo Genes that share ontologies with PHIP: view

No data available for Pathways by source and SIGNOR curated interactions for PHIP Gene

Drugs & Compounds for PHIP Gene

No Compound Related Data Available

Transcripts for PHIP Gene

Unigene Clusters for PHIP Gene

Pleckstrin homology domain interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHIP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PHIP Gene

GeneLoc Exon Structure for
PHIP
ECgene alternative splicing isoforms for
PHIP

Expression for PHIP Gene

mRNA expression in normal human tissues for PHIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHIP Gene

This gene is overexpressed in Plasma (14.6) and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHIP Gene



SOURCE GeneReport for Unigene cluster for PHIP Gene Hs.511817

mRNA Expression by UniProt/SwissProt for PHIP Gene

Q8WWQ0-PHIP_HUMAN
Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines.
genes like me logo Genes that share expression patterns with PHIP: view

Protein tissue co-expression partners for PHIP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PHIP Gene

Orthologs for PHIP Gene

This gene was present in the common ancestor of animals.

Orthologs for PHIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHIP 35
  • 93.78 (n)
  • 96.08 (a)
PHIP 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHIP 35
  • 93.98 (n)
  • 95.83 (a)
PHIP 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phip 35
  • 90.32 (n)
  • 94.95 (a)
Phip 16
Phip 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHIP 35
  • 99.29 (n)
  • 99.33 (a)
PHIP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phip 35
  • 88.91 (n)
  • 93.46 (a)
oppossum
(Monodelphis domestica)
Mammalia PHIP 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves PHIP 35
  • 81.41 (n)
  • 87.98 (a)
PHIP 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHIP 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phip 35
  • 73.9 (n)
  • 78.79 (a)
zebrafish
(Danio rerio)
Actinopterygii phip 35
  • 64.64 (n)
  • 70.17 (a)
phip 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002030 35
  • 50.42 (n)
  • 49.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for PHIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHIP Gene

ENSEMBL:
Gene Tree for PHIP (if available)
TreeFam:
Gene Tree for PHIP (if available)

Paralogs for PHIP Gene

Paralogs for PHIP Gene

(3) SIMAP similar genes for PHIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PHIP: view

Variants for PHIP Gene

Sequence variations from dbSNP and Humsavar for PHIP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs7747479 - 78,998,283(+) TGATA(A/C/T)CTGCT nc-transcript-variant, reference, missense
rs11547228 - 78,983,034(-) TAAAA(C/T)CAAGA nc-transcript-variant, reference, missense
rs9350797 - 78,965,984(+) ACTCA(A/G)GTTGA nc-transcript-variant, reference, missense
rs34841569 - 78,963,229(-) TAGGT(A/C)CCAGT nc-transcript-variant, reference, missense
rs36048894 - 78,946,747(-) AAGAA(A/C)CAGAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PHIP Gene

Variant ID Type Subtype PubMed ID
esv2675407 CNV Deletion 23128226
nsv830705 CNV Gain 17160897
nsv819945 CNV Loss 19587683
nsv518477 CNV Gain 19592680
esv270820 CNV Insertion 20981092
esv274137 CNV Insertion 20981092

Variation tolerance for PHIP Gene

Residual Variation Intolerance Score: 0.819% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.52; 88.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHIP Gene

HapMap Linkage Disequilibrium report
PHIP
Human Gene Mutation Database (HGMD)
PHIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHIP Gene

Disorders for PHIP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHIP Gene - From: DISEASES

Disorder Aliases PubMed IDs
phimosis
  • tight foreskin
penile disease
  • penile diseases
- elite association - COSMIC cancer census association via MalaCards
Search PHIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHIP
genes like me logo Genes that share disorders with PHIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHIP Gene

Publications for PHIP Gene

  1. Cloning and characterization of PHIP, a novel insulin receptor substrate-1 pleckstrin homology domain interacting protein. (PMID: 11018022) Farhang-Fallah J. … Rozakis-Adcock M. (J. Biol. Chem. 2000) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  4. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3
  5. Novel Cul3 binding proteins function to remodel E3 ligase complexes. (PMID: 25011449) Wimuttisuk W. … Singer J.D. (BMC Cell Biol. 2014) 3

Products for PHIP Gene

Sources for PHIP Gene

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